期刊
ANNALS OF NEUROLOGY
卷 74, 期 3, 页码 348-362出版社
WILEY
DOI: 10.1002/ana.23995
关键词
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资金
- NIH National Institute of Neurological Diseases and Stroke (NINDS) [NS038650, NS069476]
- National Institute of Child Health and Human Development [HD06058]
- Muscular Dystrophy Association
- Families of SMA
- Sophia's Cure
- Madison Fund
- Preston Fund
- Cade and Katelyn Fund
- Georgia Angels Fund
- Marshall's Heritage Foundation
- NINDS [NS079163-01]
In neurodegenerative disorders, effective treatments are urgently needed, along with methods to determine whether treatment worked. In this review, we discuss the rapid progress in the understanding of recessive proximal spinal muscular atrophy and how this is leading to exciting potential treatments of the disease. Spinal muscular atrophy is caused by loss of the survival motor neuron 1 (SMN1) gene and reduced levels of SMN protein. The critical downstream targets of SMN deficiency that result in motor neuron loss are not known. However, increasing SMN levels has a marked impact in mouse models, and these therapeutics are rapidly moving toward clinical trials. Promising preclinical therapies, the varying degree of impact on the mouse models, and potential measures of treatment effect are reviewed. One key issue discussed is the variable outcome of increasing SMN at different stages of disease progression. Ann Neurol 2013;74:348-362
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